Canonical Allele Identifier: CA2146832956

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73962992G= , CM000676.2:g.73962992G=	GRCh38
NC_000014.8:g.74429695G= , CM000676.1:g.74429695G=	GRCh37
NC_000014.7:g.73499448G=	NCBI36
NG_032805.1:g.18059G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.1400G= (COQ6) MANE Select	ENSP00000333946.2:p.Ser467=
ENST00000238709.8:c.1397G= (COQ6)	ENSP00000238709.5:p.Ser466=
ENST00000334571.6:c.1400G= (COQ6)	ENSP00000333946.2:p.Ser467=
ENST00000334696.10:c.*3936C= (ENTPD5)	ENSP00000335246.6:n.*3936C=
ENST00000394026.8:c.1325G= (COQ6)	ENSP00000377594.4:p.Ser442=
ENST00000554341.6:c.*999G= (COQ6)	ENSP00000450736.2:n.*999G=
ENST00000554920.5:c.504G= (COQ6)	ENSP00000451562.1:p.Lys168=
ENST00000555829.5:c.225-1442C= (ENTPD5)
ENST00000556299.1:n.611G= (COQ6)
ENST00000556588.5:n.3000G= (COQ6)
ENST00000557325.5:c.1201-3439C= (ENTPD5)	ENSP00000451810.1:n.1201-3439C=
ENST00000557780.5:n.366G= (COQ6)
ENST00000629426.2:c.1175G= (COQ6)	ENSP00000486650.1:p.Ser392=
NM_182476.2:c.1400G= (COQ6)	NP_872282.1:p.Ser467=
NM_182480.2:c.1325G= (COQ6)	NP_872286.2:p.Ser442=
XM_005267716.1:c.1235G= (COQ6)	XP_005267773.1:p.Ser412=
XM_006720156.1:c.1073G= (COQ6)	XP_006720219.1:p.Ser358=
XM_006720325.2:c.1201-3439C= (ENTPD5)	XP_006720388.1:n.1201-3439C=
XM_011536807.1:c.1292G= (COQ6)	XP_011535109.1:p.Ser431=
XM_011536808.1:c.1175G= (COQ6)	XP_011535110.1:p.Ser392=
XM_011536809.1:c.1175G= (COQ6)	XP_011535111.1:p.Ser392=
XM_011536810.1:c.914G= (COQ6)	XP_011535112.1:p.Ser305=
XM_011536811.1:c.860G= (COQ6)	XP_011535113.1:p.Ser287=
NM_001321984.1:c.1201-1442C= (ENTPD5)	NP_001308913.1:n.1201-1442C=
NM_001330189.1:c.1201-3439C= (ENTPD5)	NP_001317118.1:n.1201-3439C=
XM_006720325.3:c.1201-3439C= (ENTPD5)	XP_006720388.1:n.1201-3439C=
XM_011536807.2:c.1292G= (COQ6)	XP_011535109.1:p.Ser431=
XM_011536808.2:c.1175G= (COQ6)	XP_011535110.1:p.Ser392=
XM_011536809.3:c.1175G= (COQ6)	XP_011535111.1:p.Ser392=
XM_011536810.3:c.914G= (COQ6)	XP_011535112.1:p.Ser305=
XM_017021351.2:c.860G= (COQ6)	XP_016876840.1:p.Ser287=
XM_017021352.2:c.794G= (COQ6)	XP_016876841.1:p.Ser265=
XM_017021814.1:c.1201-3439C= (ENTPD5)	XP_016877303.1:n.1201-3439C=
XM_017021817.1:c.1060-3439C= (ENTPD5)	XP_016877306.1:n.1060-3439C=
XM_024449619.1:c.794G= (COQ6)	XP_024305387.1:p.Ser265=
XR_001750342.1:n.1554G= (COQ6)
NM_001249.4:c.*3936C= (ENTPD5)	NP_001240.1:n.*3936C=
NM_001321984.2:c.1201-1442C= (ENTPD5)	NP_001308913.1:n.1201-1442C=
NM_001321985.2:c.*3936C= (ENTPD5)	NP_001308914.1:n.*3936C=
NM_001321986.2:c.*3936C= (ENTPD5)	NP_001308915.1:n.*3936C=
NM_001321987.2:c.*3936C= (ENTPD5)	NP_001308916.1:n.*3936C=
NM_001321988.2:c.*3936C= (ENTPD5)	NP_001308917.1:n.*3936C=
NM_001330189.2:c.1201-3439C= (ENTPD5)	NP_001317118.1:n.1201-3439C=
NM_182476.3:c.1400G= (COQ6) MANE Select	NP_872282.1:p.Ser467=
NM_001382258.1:c.1200+7018C= (ENTPD5)	NP_001369187.1:n.1200+7018C=
NM_001382259.1:c.1201-3439C= (ENTPD5)	NP_001369188.1:n.1201-3439C=
NM_001382260.1:c.1201-3439C= (ENTPD5)	NP_001369189.1:n.1201-3439C=
NM_001382262.1:c.1200+7018C= (ENTPD5)	NP_001369191.1:n.1200+7018C=
NM_182480.3:c.1325G= (COQ6)	NP_872286.2:p.Ser442=